Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin‐Binding Protein C) by Alfonso Peñarroya, Rebeca Lorca, José Julián Rodríguez Reguero, Juan Gómez, Pablo Avanzas, Juan Ramon Tejedor, Agustín F. Fernandez, Mario F. Fraga

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The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) by R. P. Myasnikov, A. V. Kulikova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. V. Klimushina, M. G. Divashuk, O. V. Kurilova, P. S. Pilyus, M. S. Kharlap, S. N. Koretsky, O. M. Larina, V. E. Sinitsyn, L. A. Gandaeva, V. I. Barsky, E. N. Basargina, S. A. Boytsov, O. M. Drapkina

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Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants by Tatiana Flisikowska, Björn Petersen, Giulia Mearini, Daniela Huber, Mayuko Kurome, Melanie Stoff, Saskia Schlossarek, Andrea Lucas-Hahn, Eckhard Wolf, Judith Montag, Angelika Schnieke, Lucie Carrier

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Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy by Floor W. van den Dolder, Vincent A.J. Warnaar, Yeszamin L. Onderwater, Annette F. Baas, Diederik W.D. Kuster, Jolanda van der Velden

“…Hypertrophic cardiomyopathy (HCM) is often caused by pathogenic or likely pathogenic variants, of which 30–50 % involve a variant in the gene encoding cardiac myosin-binding protein-C (MYBPC3). …”
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Functional analysis of a new splicing mutation in the <em>MYBPC3</em> gene in hypertrophic cardiomyopathy by R. R. Salakhov, M. V. Golubenko, M. Y. Skoblov, R. R. Savchenko, N. R. Valiakhmetov, E. N. Pavlyukova, M. S. Nazarenko

“…Aim. To study the pathogenic effect in the MYBPC3 splice-site variant in the patient with hypertrophic cardiomyopathy. …”
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Experience in genetic testing of hypertrophic cardiomyopathy using nanopore DNA sequencing by R. R. Salakhov, M. V. Golubenko, E. N. Pavlukova, A. N. Kucher, N. P. Babushkina, N. R. Valiahmetov, A. V. Markov, E. O. Belyaeva, A. F. Kanev, M. S. Nazarenko

“…However, only three mutations p.Arg243Cys, p.Tyr609Asn, p.Arg870His in the MYH7 gene, and one mutation p.Lys985Asn in the MYBPC3 were confirmed by Sanger sequencing. Cascade screening of pathogenic variant p.Arg870His in the MYH7 gene was performed. …”
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Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. by Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes

“…We identified likely pathogenic deep intronic variants in VCL, PRKAG2 and TTN genes. …”
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Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population by Derek P. H. Lee, Derek P. H. Lee, Ye Cao, Lilei Zhang

“…Specifically in this unrelated cohort, we identified several recurrent variants including MYH7:c.1987C&gt;T (p.Arg663Cys) pathogenic missense variant (n = 2), MYBPC3:c.1038_1042dup (p.Met348Thrfs*4) pathogenic truncating variant (n = 3) and MYBPC3:c.1000G&gt;A (p.Glu334Lys) missense VUS (n = 3). …”
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Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis by Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle, Marine Herbane, Claire Lucas, Frédérique Magdinier, Gilbert Habib, Jean-Jacques Schott, Stéphane Zaffran, Karine Nguyen, Karine Nguyen

“…The vast majority of pathogenic (P) and likely pathogenic (LP) variants were found in MYBPC3 (22 out of 40 variants) and MYH7 (8 out of 16 variants) genes. …”
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Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy by Anastasia Chumakova, Ivan Vlasov, Elena Filatova, Anna Klass, Andrey Lysenko, Gennady Salagaev, Maria Shadrina, Petr Slominsky

“…We have developed and validated a method for identifying SNVs based on transcriptomic data, which can be used to identify putative pathogenic variants. We identified mutations in key HCMP genes MYBPC3 and MYH7 in a cohort of patients. …”
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Non-compaction cardiomyopathy. Part I: clinical and genetic heterogeneity and predictors of unfavorable prognosis by T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, T. V. Rusak, O. D. Levdansky, N. G. Danilenko, O. G. Davydenko

“…The most common variants (57,9%) were identified in the sarcomere protein genes (TTN, MYBPC3, MYH7); digenic mutations were found in 21,6% of patients. …”
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Noncompact Myocardium with Dilated Phenotype: Manifestations, Treatment and Outcomes in Comparison with Other Forms of Dilated Cardiomyopathy Syndrome by O. V. Blagova, E. V. Pavlenko, N. V. Varionchik, V. P. Sedov, N. V. Gagarina, E. A. Mershina, M. E. Polyak, E. V. Zaklyazminskaya, A. V. Nedostup

“…Lethality in these subgroups was 12.2% and 33.3%, respectively, and was significantly higher than in asymptomatic, ischemic and arrhythmic variants of NCM. In the DCM registry, the proportion of patients with NСM was 21% (n=78), and increased left ventricular (LV) trabecularity was detected in another 18% (n=64). …”
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Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic by Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit

“…Patients were seen in follow‐up at a median of 18 months. A pathogenic/likely pathogenic variant was identified in 28.5% of the total cohort, including 33.3% of the DCM cohort (28% TTN mutations) and 34.1% of the HCM cohort (60% MYBPC3 and 20% MYH7) who underwent genetic testing. …”
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Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling by Malene E. Lindholm, Sarah Abramowitz, Sarah Abramowitz, Daryl M. Waggott, Megan E. Grove, Frederick E. Dewey, Frederick E. Dewey, Cuiping Pan, Aleksandra Pavlovic, Ching Shang, Yong Huang, Leore Bensabath, Rachel L. Goldfeder, Pablo Cordero, Ayca Erbilgin, Ayca Erbilgin, James R. Priest, James R. Priest, Hassan Chaib, Megan J. Puckelwartz, Sharlene M. Day, Elizabeth M. McNally, Thomas Cappola, Gerald W. Dorn, Euan A. Ashley, Euan A. Ashley, Euan A. Ashley, Euan A. Ashley, Matthew T. Wheeler, Matthew T. Wheeler

“…Genome sequencing (GS) allows interrogation of the full spectrum of inborn genetic variation in an individual and RNA profiling provides a snapshot of the cardiac-specific pathogenic effects on gene expression.ObjectivesIdentify candidate genetic modifiers of hypertrophic cardiomyopathy phenotype.MethodsWe performed GS of 48 individuals with variants in MYH7, the gene encoding beta myosin heavy chain, and a personal or family history of cardiomyopathy. …”
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